Canonical Allele Identifier: CA5458916
Gene: MTPAP HGNC NCBI

Linked Data

ClinVar Variation Id: 2085783
ClinVar RCV Id: RCV003005239
dbSNP Id: rs752913555
ExAC: 10:30602659 T / G
gnomAD v2: 10-30602659-T-G
gnomAD v3: 10-30313730-T-G
gnomAD v4: 10-30313730-T-G
MyVariant Identifiers: chr10:g.30602659T>G (hg19) chr10:g.30313730T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.30313730T>G , CM000672.2:g.30313730T>G GRCh38
NC_000010.10:g.30602659T>G , CM000672.1:g.30602659T>G GRCh37
NC_000010.9:g.30642665T>G NCBI36
NG_028096.1:g.40609A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000263063.9:c.1628A>C MANE Select ENSP00000263063.3:p.Lys543Thr
ENST00000263063.8:c.1628A>C ENSP00000263063.3:p.Lys543Thr
ENST00000488290.5:n.3383A>C
NM_018109.3:c.1628A>C NP_060579.3:p.Lys543Thr
NM_018109.4:c.1628A>C MANE Select NP_060579.3:p.Lys543Thr
Search 100 bp 5'
Search 100 bp 3'